pachyonychia congenita type 2 (Jackson-Lawler type)

Pathology

• ectodermal dysplasia

Genetics

• autosomal dominant
• associated with defects in KRT6B, KRT17

Clinical manifestations

• hypertrophic nail dystrophy resulting in onchyogryposis (thickening & increase in curvature of the nail), palmoplantar keratoderma & hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow & body hair, & by the presence of natal teeth

More general terms

• pachyonychia congenita

Database

• OMIM: https://mirror.omim.org/entry/167210